CHAMP1-associated intellectual disability syndrome
| CHAMP1-associated intellectual disability syndrome | |
|---|---|
| Other names | Autosomal dominant intellectual disability 40 |
| Specialty | Medical genetics, pediatrics |
| Symptoms | Developmental delays, intellectual disability, and other multi-systemic symptoms |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation in CHAMP1 |
| Prevention | None |
| Prognosis | With treatment, medium to good; without treatment, medium to poor |
| Frequency | Rare; only 36 cases have been described |
| Deaths | - |
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
Signs and symptoms
Individuals with the disorder often show the following signs and symptoms:
- Intellectual disabilities
- Speech delays
- Epicanthic fold
- Drooping of the lower lip
- Feeding difficulties
- Hypotonia of the face
- Ataxia
- Hyperopia
- High palate
- Widespread developmental delays
- Gastroesophageal reflux
- Widespread hypotonia
- Decreased sense of pain
- Joint hypermobility
- Long face
- Constantly open mouth
- Prognathism (pointy chin)
- High occurrence of respiratory tract infections
- Short philtrum
- Stereotypy
- Tented upper lip vermilion
- Upslanted palpebral fissures
- Strabismus
- Autism/autistic-like behaviour
Causes
As its name suggests, the condition is caused by mutations in the CHAMP1 gene, in chromosome 13q34. These mutations are most often missense or nonsense mutations. They are usually sporadic, meaning the condition is not inherited from the parents. However, if people with the disorder were to reproduce, they would have a 1 in 2 chance of giving their children a copy of the gene, because the disorder is autosomal dominant, which means that only one copy of a mutated gene (whether inherited or from a spontaneous error in cell division) is needed to pass it on to a child.
Epidemiology
According to OMIM, only 36 cases have been described in medical literature.